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Page 1
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium. Tudini E, et al. Among authors: gallagher rl. Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006. Am J Hum Genet. 2022. PMID: 36332611 Free PMC article. Review.
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A. Potuijt JWP, et al. Genet Med. 2018 Nov;20(11):1405-1413. doi: 10.1038/gim.2018.18. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543231 Free article.
MALDI-TOF MS meets WGS in a VRE outbreak investigation.
Schlebusch S, Price GR, Gallagher RL, Horton-Szar V, Elbourne LD, Griffin P, Venter DJ, Jensen SO, Van Hal SJ. Schlebusch S, et al. Among authors: gallagher rl. Eur J Clin Microbiol Infect Dis. 2017 Mar;36(3):495-499. doi: 10.1007/s10096-016-2824-4. Epub 2016 Nov 26. Eur J Clin Microbiol Infect Dis. 2017. PMID: 27889877
Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.
Armes JE, Williams M, Price G, Wallis T, Gallagher R, Matsika A, Joy C, Galea M, Gardener G, Leach R, Swagemakers SM, Tearle R, Stubbs A, Harraway J, van der Spek PJ, Venter DJ. Armes JE, et al. Pediatr Dev Pathol. 2018 Jan-Feb;21(1):54-67. doi: 10.1177/1093526617715528. Epub 2017 Jun 22. Pediatr Dev Pathol. 2018. PMID: 28641477
Neuroimaging of tissue microstructure as a marker of neurodegeneration in the AT(N) framework: defining abnormal neurodegeneration and improving prediction of clinical status.
Gallagher RL, Koscik RL, Moody JF, Vogt NM, Adluru N, Kecskemeti SR, Van Hulle CA, Chin NA, Asthana S, Kollmorgen G, Suridjan I, Carlsson CM, Johnson SC, Dean DC 3rd, Zetterberg H, Blennow K, Alexander AL, Bendlin BB. Gallagher RL, et al. Alzheimers Res Ther. 2023 Oct 17;15(1):180. doi: 10.1186/s13195-023-01281-y. Alzheimers Res Ther. 2023. PMID: 37848950 Free PMC article.
Food intake controlled by a blood factor.
Davis JD, Gallagher RL, Ladove R. Davis JD, et al. Among authors: gallagher rl. Science. 1967 Jun 2;156(3779):1247-8. doi: 10.1126/science.156.3779.1247. Science. 1967. PMID: 6025546